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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review</title><author><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name><affiliation><nlm:aff id="aff1"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation><nlm:aff id="aff2"><institution>Department of Dermatology, St. George's Hospital NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation><nlm:aff id="aff1"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Department of Dermatology, St. George's Hospital NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Keeley, Vaughan" sort="Keeley, Vaughan" uniqKey="Keeley V" first="Vaughan" last="Keeley">Vaughan Keeley</name><affiliation><nlm:aff id="aff3"><institution>Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust</institution>, Derby,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Riches, Katie" sort="Riches, Katie" uniqKey="Riches K" first="Katie" last="Riches">Katie Riches</name><affiliation><nlm:aff id="aff3"><institution>Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust</institution>, Derby,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation><nlm:aff id="aff4"><institution>Lymphovascular Research Unit, Division of Cardiovascular and Cell Sciences, St George's, University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name><affiliation><nlm:aff id="aff4"><institution>Lymphovascular Research Unit, Division of Cardiovascular and Cell Sciences, St George's, University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><nlm:aff id="aff1"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25804399</idno><idno type="pmc">4486366</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486366</idno><idno type="RBID">PMC:4486366</idno><idno type="doi">10.1038/ejhg.2015.41</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000912</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000912</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review</title><author><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name><affiliation><nlm:aff id="aff1"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation><nlm:aff id="aff2"><institution>Department of Dermatology, St. George's Hospital NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation><nlm:aff id="aff1"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Department of Dermatology, St. George's Hospital NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Keeley, Vaughan" sort="Keeley, Vaughan" uniqKey="Keeley V" first="Vaughan" last="Keeley">Vaughan Keeley</name><affiliation><nlm:aff id="aff3"><institution>Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust</institution>, Derby,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Riches, Katie" sort="Riches, Katie" uniqKey="Riches K" first="Katie" last="Riches">Katie Riches</name><affiliation><nlm:aff id="aff3"><institution>Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust</institution>, Derby,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation><nlm:aff id="aff4"><institution>Lymphovascular Research Unit, Division of Cardiovascular and Cell Sciences, St George's, University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name><affiliation><nlm:aff id="aff4"><institution>Lymphovascular Research Unit, Division of Cardiovascular and Cell Sciences, St George's, University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><nlm:aff id="aff1"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000–1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id><journal-title-group><journal-title>European Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">1018-4813</issn><issn pub-type="epub">1476-5438</issn><publisher><publisher-name>Nature Publishing Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25804399</article-id><article-id pub-id-type="pmc">4486366</article-id><article-id pub-id-type="pii">ejhg201541</article-id><article-id pub-id-type="doi">10.1038/ejhg.2015.41</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review</article-title><alt-title alt-title-type="running">The lymphatic phenotype in Turner syndrome</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Atton</surname><given-names>Giles</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Gordon</surname><given-names>Kristiana</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Glen</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Keeley</surname><given-names>Vaughan</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Riches</surname><given-names>Katie</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Ostergaard</surname><given-names>Pia</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Mortimer</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Mansour</surname><given-names>Sahar</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><aff id="aff1"><label>1</label><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></aff><aff id="aff2"><label>2</label><institution>Department of Dermatology, St. George's Hospital NHS Trust</institution>, London,<country>UK</country></aff><aff id="aff3"><label>3</label><institution>Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust</institution>, Derby,<country>UK</country></aff><aff id="aff4"><label>4</label><institution>Lymphovascular Research Unit, Division of Cardiovascular and Cell Sciences, St George's, University of London</institution>, London,<country>UK</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, Tooting</institution>, London SW17 0RE, <country>UK</country>. Tel: +44 20 8725 0957; Fax: +44 20 8725 3444; E-mail: <email>smansour@sgul.ac.uk</email></corresp></author-notes><pub-date pub-type="ppub"><month>12</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>25</day><month>03</month><year>2015</year></pub-date><volume>23</volume><issue>12</issue><fpage>1634</fpage><lpage>1639</lpage><history><date date-type="received"><day>21</day><month>09</month><year>2014</year></date><date date-type="rev-recd"><day>19</day><month>12</month><year>2014</year></date><date date-type="accepted"><day>06</day><month>01</month><year>2015</year></date></history><permissions><copyright-statement>Copyright © 2015 Macmillan Publishers Limited</copyright-statement><copyright-year>2015</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000–1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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